Ocular Responses to Autonomic Drugs in Familial Dysautonomia.
نویسندگان
چکیده
Familial dysautonomia presents a tetrad of symptoms referable to the eye which are quite regularly present and which, in association, are distinctive and virtually diagnostic. These are alacrima, corneal hypesthesia or anesthesia, exodeviation, and pupillary constriction following the local administration of 2.5 per cent methacholine. These manifestations appear to be related to other symptoms of the disease.
منابع مشابه
Afferent baroreflex failure in familial dysautonomia.
BACKGROUND Familial dysautonomia (FD) is due to a genetic deficiency of the protein IKAP, which affects development of peripheral neurons. Patients with FD display complex abnormalities of the baroreflex of unknown cause. METHODS To test the hypothesis that the autonomic phenotype of FD is due to selective impairment of afferent baroreceptor input, we examined the autonomic and neuroendocrine...
متن کاملHighly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk.
OBJECTIVE Patients with familial dysautonomia have an increased risk of sudden death. In some patients with familial dysautonomia, sympathetic cardiac dysfunction is indicated by prolongation of corrected QT (QTc) interval, especially during stress tests. As many patients do not tolerate physical stress, additional indices are needed to predict autonomic risk. In familial dysautonomia there is ...
متن کاملDysautonomia, A Heuristic Approach to a Revised Model for Etiology of Disease
Dysautonomia refers to a disease where the autonomic nervous system is dysfunctional. This may be a central control mechanism, as in genetically determined familial dysautonomia (Riley-Day Syndrome), or peripherally in the distribution of the sympathetic and parasympathetic systems. There are multiple reports of a number of different diseases associated with dysautonomia. The etiology of this a...
متن کاملThe Requirements for Autonomic Microbiologically-Induced Calcite-Precipitation in Concrete
ID No: 263
متن کاملFamilial dysautonomia (Riley-Day syndrome).
Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abo...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Investigative ophthalmology
دوره 4 شماره
صفحات -
تاریخ انتشار 1965